Paralogue Annotation for RYR1 residue 32

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 32
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 32

No paralogue variants have been mapped to residue 32 for RYR1.

RYR1	-AE-GEDEVQFLRTDDEVVLQCSATVLKEQ>L<KLCLAAEGFGNRLCFLEPTSNAQNVPPDLA	62
RYR2	GGE-GEDEIQFLRTDDEVVLQCTATIHKEQ>Q<KLCLAAEGFGNRLCFLESTSNSKNVPPDLS	63
RYR3	GGEGGEDEIQFLRTEDEVVLQCIATIHKEQ>R<KFCLAAEGLGNRLCFLEPTSEAKYIPPDLC	64
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L32F	c.94C>T	Putative Benign		rs138630815	SIFT: Polyphen: probably damaging